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Article

Discovery and genotyping of genome structural polymorphism by sequencing on a population scale.

Nature genetics - 1 Mar 2011

Handsaker Robert E, Korn Joshua M, Nemesh James, McCarroll Steven A

Abstract excerpt

Accurate and complete analysis of genome variation in large populations will be required to understand the role of genome variation in complex disease. We present an analytical framework for characterizing genome deletion polymorphism in populations using sequence data that are distributed across hundreds or thousands of genomes. Our approach uses population-level concepts to reinterpret the technical features of...

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Identifiers

PMID: 21317889
DOI: 10.1038/ng.768
PMCID: PMC5094049

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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